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Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis
Author(s) -
Schaefer Andrew M.,
Blakely Emma L.,
Griffiths Philip G.,
Turnbull Douglass M.,
Taylor Robert W.
Publication year - 2005
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20319
Subject(s) - chronic progressive external ophthalmoplegia , mitochondrial dna , muscle biopsy , cytochrome c oxidase , mitochondrial disease , mitochondrial myopathy , external ophthalmoplegia , biopsy , mitochondrial respiratory chain , respiratory chain , abnormality , mitochondrion , genetics , medicine , biology , pathology , gene , psychiatry
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large‐scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. Muscle Nerve, 2005